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TLR1 Gene

protein-coding   GIFtS: 71
GCID: GC04M038797

Toll-Like Receptor 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Toll-Like Receptor 11 2     CD2812
Toll/Interleukin-1 Receptor-Like Protein2 3     rsc7862
TIL2 3     KIAA00123
TIL. LPRS52 5     CD281 Antigen3

External Ids:    HGNC: 118471   Entrez Gene: 70962   Ensembl: ENSG000001741257   OMIM: 6011945   UniProtKB: Q153993   

Export aliases for TLR1 gene to outside databases

Previous GC identifers: GC04P039090 GC04M038961 GC04M038632 GC04M038695 GC04M038620 GC04M038474 GC04M038122


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TLR1 Gene:
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role
in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans
and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs)
that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of
effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously
expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use
of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. (provided
by RefSeq, Jul 2008)

GeneCards Summary for TLR1 Gene:
TLR1 (toll-like receptor 1) is a protein-coding gene. Diseases associated with TLR1 include ocular toxoplasmosis, and leprosy 5. GO annotations related to this gene include transmembrane signaling receptor activity and protein heterodimerization activity. An important paralog of this gene is ENSG00000173366.

UniProtKB/Swiss-Prot: TLR1_HUMAN, Q15399
Function: Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and
triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or
lipopeptides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory
response (By similarity)

summary for TLR1 Gene:
Toll-like receptors (TLRs) are single transmembrane cell-surface receptors, which have a key role in the
innate immune system. TLRs generally exist as homodimers (although TLR2-TLR6 heterodimers have been
reported) and are found on immune cells such as macrophages, B lymphocytes and mast cells. Toll-like
receptors are activated by molecules associated with biological threat and are highly specific towards
evolutionary conserved entities on microbes, such as bacterial cell-surface lipopolysaccharides, flagella
and unmethylated CpG islands. It has been suggested that some toll-like receptors may have endogenous
ligands, such as Hsp60 and fibrinogen, and this has promoted speculation that endogenous toll-like receptor
activators may have a pathological role in autoimmune disease. Activation of toll-like receptors initiates
downstream signaling cascades, initially via the adapter molecules MyD88, Trap, Trif and Tram, which
converge on the PI 3-K and NF-kappaB pathways and regulate intracellular kinases and gene expression. This
can stimulate an inflammatory and/or antigen-specific immune response. The signaling cascade coupled to
toll-like receptor activation is very similar to that of interleukin-1 receptor (IL-1R) activation.

Gene Wiki entry for TLR1 (TLR 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_006238.12  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TLR1 gene promoter:
         AP-1   FOXO4   ATF-2   POU3F2 (N-Oct-5b)   c-Jun   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTLR1 promoter sequence
   Search Chromatin IP Primers for TLR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TLR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p14   Ensembl cytogenetic band:  4p14   HGNC cytogenetic band: 4p14

TLR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TLR1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M038797:  view genomic region     (about GC identifiers)

Start:
38,792,298 bp from pter      End:
38,858,438 bp from pter
Size:
66,141 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TLR1_HUMAN, Q15399 (See protein sequence)
Recommended Name: Toll-like receptor 1 precursor  
Size: 786 amino acids; 90291 Da
Subunit: Binds MYD88 (via TIR domain). Interacts with CNPY3 (By similarity). Interacts (via extracellular domain)
with TLR2. Ligand binding induces the formation of a heterodimer with TLR2
Sequence caution: Sequence=BAA02801.2; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for TLR1:
1FYV (3D)        2Z7X (3D)    
Secondary accessions: D1CS39 D1CS41 O15452 Q32MK3 Q32MK4 Q9UG90

Explore the universe of human proteins at neXtProt for TLR1: NX_Q15399

Explore proteomics data for TLR1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn51, Asn137, Asn163, Asn330, Asn429, Asn578
  • Modification sites at PhosphoSitePlus

  • See TLR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003254.2  
    ENSEMBL proteins: 
     ENSP00000421259   ENSP00000421856   ENSP00000423017   ENSP00000423725   ENSP00000424894  
     ENSP00000354932  

    TLR1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for TLR1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for TLR1
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    Novus Biologicals TLR1 Proteins
    Novus Biologicals TLR1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TLR1

    TLR1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TLR1
    R&D Systems Antibodies for TLR1
    Cell Signaling Technology (CST) Antibodies for TLR1 
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    Novus Biologicals TLR1 Antibodies
    Abcam antibodies for TLR1
    Cloud-Clone Corp. Antibodies for TLR1
    ThermoFisher Antibodies for TLR1
    LSBio Antibodies in human, mouse, rat for TLR1

    TLR1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for TLR1
    Cloud-Clone Corp. CLIAs for TLR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: TLR1
    Toll-like receptor family

    5 InterPro protein domains:
     IPR000483 Cys-rich_flank_reg_C
     IPR001611 Leu-rich_rpt
     IPR000157 TIR_dom
     IPR027187 TLR1/6
     IPR017241 Toll-like_receptor

    Graphical View of Domain Structure for InterPro Entry Q15399

    ProtoNet protein and cluster: Q15399

    2 Blocks protein domains:
    IPB000157 TIR domain
    IPB000483 Cysteine-rich flanking region


    UniProtKB/Swiss-Prot: TLR1_HUMAN, Q15399
    Similarity: Belongs to the Toll-like receptor family
    Similarity: Contains 19 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain
    Similarity: Contains 1 TIR domain


    TLR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TLR1_HUMAN, Q15399
    Function: Participates in the innate immune response to microbial agents. Specifically recognizes diacylated and
    triacylated lipopeptides. Cooperates with TLR2 to mediate the innate immune response to bacterial lipoproteins or
    lipopeptides. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory
    response (By similarity)

         Genatlas biochemistry entry for TLR1:
    Drosophila transmembrane receptor Toll homolog 1,ubiquitously expressed,with at least two alternatively spliced
    isoforms,tissue specific,maybe involved in morphogenesis and immune defense

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS10426995
    GO:0004888transmembrane signaling receptor activity NAS11081518
    GO:0005515protein binding ----
    GO:0046982protein heterodimerization activity IDA17889651
         
    TLR1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TLR1:
     Decreased Wnt reporter activit 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tlr1):
     hematopoietic system  immune system 

    TLR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TLR1: Tlr1tm1Aki Tlr1tm1Flv

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TLR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TLR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TLR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TLR1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TLR1:
    hsa-mir-335-5p (MIRT018819), hsa-mir-26b-5p (MIRT030134)

    Block miRNA regulation of human, mouse, rat TLR1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate TLR1
    SwitchGear 3'UTR luciferase reporter plasmidTLR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TLR1
    Predesigned siRNA for gene silencing in human, mouse, rat TLR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TLR1

    Clone
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    OriGene clones in human, mouse for TLR1 (see all 6)
    OriGene ORF clones in mouse, rat for TLR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TLR1 (NM_003263)
    Sino Biological Human cDNA Clone for TLR1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TLR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TLR1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TLR1
    Browse ESI BIO Cell Lines and PureStem Progenitors for TLR1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TLR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TLR1_HUMAN, Q15399: Cell membrane; Single-pass type I membrane protein (By similarity). Cytoplasmic vesicle,
    phagosome membrane; Single-pass type I membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    extracellular2
    nucleus2
    endosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS9435236
    GO:0005887integral component of plasma membrane TAS9435236
    GO:0016020membrane NAS11081518
    GO:0016021integral component of membrane ----
    GO:0030670phagocytic vesicle membrane IEA--

    TLR1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TLR1 About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1Toll-like receptor signaling pathway
    Toll-like receptor signaling pathway0.94
    Regulation of toll-like receptor signaling pathway0.93
    Toll-like receptor signaling pathway0.94
    2Immune response Bacterial infections in normal airways
    Immune response Bacterial infections in normal airways0.78
    Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response0.47
    Bacterial infections in CF airways0.78
    3NOD-like Receptor Signaling Pathways
    Toll-Like receptor Signaling Pathways0.58
    Inflammasome Activation Pathways0.51
    NOD-like Receptor Signaling Pathways0.58
    4Defensins
    Defensins0.80
    Beta defensins0.80
    5NF-KappaB Family Pathway
    NF-KappaB (p50-p65) Pathway0.72
    NF-KappaB Family Pathway0.72

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected R&D Systems Pathways for TLR1 (see all 6)
        NOD-like Receptor Signaling Pathways
    Inflammasome Activation Pathways
    IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Th1 Differentiation
    Toll-Like receptor Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TLR1 (see all 8)
        NF-KappaB (p50-p65) Pathway
    Toll-Like Receptors Pathway
    TRAF Pathway
    TREM1 Pathway
    Colorectal Cancer Metastasis

    1 Cell Signaling Technology (CST) Pathway for TLR1
        NF-kappaB Signaling

    1 Tocris Bioscience Pathway for TLR1
        Toll-like Receptor Pathway

    3 GeneGo (Thomson Reuters) Pathways for TLR1
        Immune response Bacterial infections in normal airways
    Immune response TLR signaling pathways
    Bacterial infections in CF airways

    2 BioSystems Pathways for TLR1
        Toll-like receptor signaling pathway
    Regulation of toll-like receptor signaling pathway

    1 Sino Biological Pathway for TLR1
        NF-kB (NFkB) Pathway


    2 Kegg Pathways  (Kegg details for TLR1):
        Toll-like receptor signaling pathway
    Tuberculosis


    TLR1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TLR1 (see all 8): 
              Innate & Adaptive Immune Responses in human mouse rat
              Antigen Presenting Cells in human mouse rat
              Toll-Like Receptor Signaling Pathway in human mouse rat
              NFKB Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TLR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for TLR1 (Q153993 ENSP000003549324) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPD1P108093, ENSP000003400194I2D: score=2 STRING: ENSP00000340019
    TLR10Q9BXR53, ENSP000003089254I2D: score=2 STRING: ENSP00000308925
    TRAP1Q129313, ENSP000002469574I2D: score=2 STRING: ENSP00000246957
    TIRAPP587533, ENSP000003764454I2D: score=1 STRING: ENSP00000376445
    TLR9Q9NR963, ENSP000003538744I2D: score=1 STRING: ENSP00000353874
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002224toll-like receptor signaling pathway IEA--
    GO:0002755MyD88-dependent toll-like receptor signaling pathway ----
    GO:0006952defense response ----
    GO:0006954inflammatory response IEA--
    GO:0006955immune response TAS10426995

    TLR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for TLR1
      Browse compounds at ApexBio 

    Compounds for TLR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Pam2CSK4TLR2/6 agonist; induces TNF-alpha production[868247-72-7]
    ResiquimodToll-like receptor 7 (TLR7) agonist[144875-48-9]
    Pam3CSK4TLR1/2 agonist; induces cytokine production[112208-00-1]
    Poly(I:C)TLR3 agonist[42424-50-0]
    ImiquimodToll-like receptor 7 (TLR7) agonist[99011-02-6]

    4 Novoseek inferred chemical compound relationships for TLR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipoteichoic acid 73.9 4 14500472 (2), 10364168 (1)
    flagellin 70.4 2 16479520 (1), 19270494 (1)
    peptidoglycan 69.8 9 18424724 (2), 12874299 (1), 16374251 (1), 11254583 (1)
    lipid 0 4 17419716 (1), 17889651 (1)



    TLR1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TLR1 gene: 
    NM_003263.3  

    Unigene Cluster for TLR1:

    Toll-like receptor 1
    Hs.654532  [show with all ESTs]
    Unigene Representative Sequence: NM_003263
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000510552 ENST00000505744 ENST00000502213 ENST00000505940 ENST00000515861
    ENST00000506146 ENST00000508364 ENST00000509754 ENST00000508535 ENST00000308979(uc003gtl.3)

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    GenScript: all cDNA clones in your preferred vector: TLR1 (NM_003263)
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      QuantiFast Probe-based Assays in human, mouse, rat TLR1

    Additional mRNA sequence: 

    AB445617.1 AK292982.1 AL050262.1 BC089403.1 BC109093.1 BC109094.1 CR533562.1 D13637.1 
    DQ012254.1 DQ012255.1 DQ012256.1 DQ012257.1 DQ012258.1 DQ012259.1 DQ012260.1 DQ012261.1 
    DQ012262.1 DQ012263.1 DQ012264.1 U88540.1 

    8 DOTS entries:

    DT.210982  DT.121275795  DT.121276009  DT.100740843  DT.121275964  DT.121276003  DT.206550  DT.121275790 

    Selected AceView cDNA sequences (see all 37):

    BU676863 D13637 BU623316 CA438677 NM_003263 BP375715 AA251768 CD368967 
    BQ003287 BX093274 U88540 CA394039 AW117540 BX498528 AA953203 CR533562 
    AW967990 AL050262 CF121621 AW408740 AI768133 AA812178 AA928360 AL035755 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TLR1 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e · 6f
    SP1:                                                              -                                       
    SP2:                                      -                       -                                       
    SP3:                                            -                 -                                       
    SP4:        -     -     -     -     -           -                                                         
    SP5:                                            -     -     -     -                                       


    ECgene alternative splicing isoforms for TLR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TLR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAGGAGGA
    TLR1 Expression
    About this image


    TLR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Monocytes Peripheral Blood
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells II Spleen
    TLR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TLR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654532

    UniProtKB/Swiss-Prot: TLR1_HUMAN, Q15399
    Tissue specificity: Ubiquitous. Highly expressed in spleen, ovary, peripheral blood leukocytes, thymus and small
    intestine

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TLR1 (see all 8): 
              Innate & Adaptive Immune Responses in human mouse rat
              Antigen Presenting Cells in human mouse rat
              Toll-Like Receptor Signaling Pathway in human mouse rat
              NFKB Signaling Pathway in human mouse rat
              Inflammatory Response & Autoimmunity in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TLR1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tlr11 , 5 toll-like receptor 11, 5 77.1(n)1
    74.07(a)1
      5 (33.53 cM)5
    218971  NM_001276445.11  NP_001263374.11 
     649248345 
    chicken
    (Gallus gallus)
    Aves TLR1LA6
    TLR1LB6
    Gallus gallus toll-like receptor 1-like A (TLR1LA)...
    Gallus gallus toll-like receptor 1-like B (TLR1LB)...
    48(a)
    48(a)
    many ↔ many
    many ↔ many
    4(69131053-69133509)
    4(69117413-69122553)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Toll-like receptor
    49(a)
    48(a)
    many ↔ many
    many ↔ many
    GL343361.1(162095-164458)
    GL343361.1(130910-133312)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tlr11 toll-like receptor 1 54.94(n)
    44.93(a)
      100495171  XM_002938656.2  XP_002938702.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tlr11 toll-like receptor 1 48.05(n)
    37.69(a)
      403127  NM_001130593.1  NP_001124065.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Toll-96
    Toll-9
    18(a)
    1 → many
    3L(20354943-20359824)


    ENSEMBL Gene Tree for TLR1 (if available)
    TreeFam Gene Tree for TLR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TLR1 gene
    ENSG000001733662  CD1802  TLR72  TLR92  TLR52  TLR102  TLR42  TLR82  
    TLR62  TLR32  TLR22  
    3 SIMAP similar genes for TLR1 using alignment to 14 protein entries:     TLR1_HUMAN (see all proteins):
    TLR6    TLR10    TLR2

    TLR1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TLR1
    PGOHUM00000244664


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    TLR1_HUMAN, Q15399: Genetic variations in TLR1 may influence susceptibility to or protection against contracting leprosy
    and define the leprosy susceptibility locus 5 [MIM:613223]. Ser-602 is a common allele in Caucasians. It is
    associated with impaired cell surface expression and receptor function resulting in protection against leprosy


    Selected SNPs for TLR1 (see all 417)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378531751,2
    C,Funtested138689575(-) ACTTTG/ATTCCT 2 /I /V mis11Minor allele frequency- A:0.00NA 4550
    rs1378531741,2
    C,Funtested138689643(-) CTGGGT/CGAAGA 2 /A /V mis11Minor allele frequency- C:0.00NA 4552
    rs1378531731,2
    Cuntested138689934(-) TTCTTA/GTAAGT 2 Y C mis11Minor allele frequency- G:0.00NA 4548
    rs1378531721,2,,4
    C,Funtested138689970(-) CCAAGT/CATCAA 2 /A /V mis11Minor allele frequency- C:0.01NA 4550
    rs1378531711,2,,4
    Cuntested138690217(-) AGAGCA/GTTCCT 2 I V mis10--------
    rs1378531701,2,,4
    Cuntested138691371(-) TTTGAC/TAATTT 2 T I mis10--------
    rs57436181,2,,4
    C,F,Aother138689790(-) CTGCAG/TCTACT 2 S I mis1 ese314Minor allele frequency- T:0.48NA EU WA CSA 5860
    rs48330951,2,,4
    C,F,A,Hother138690852(+) TAAGAT/CTTGAT 2 /N /S mis136Minor allele frequency- C:0.48EA NA EU NS WA CSA 8080
    rs1904343921,2
    --38688595(+) AGAGTA/GTAAAG 1 -- ds50010--------
    rs731426951,2
    C,F--38688660(+) ATCCAG/CCAGCT 1 -- ds50011Minor allele frequency- C:0.50WA 2

    HapMap Linkage Disequilibrium report for TLR1 (38792298 - 38858438 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TLR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv5526n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): TLR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TLR1
    DNA2.0 Custom Variant and Variant Library Synthesis for TLR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601194   
    OMIM disorders: 613223  
    Selected diseases for TLR1 (see all 66):    
    About MalaCards
    ocular toxoplasmosis    leprosy 5    leprosy, protection against    bacteriuria
    lyme disease    pelvic inflammatory disease    invasive aspergillosis    melioidosis
    leprosy    filariasis    pulmonary tuberculosis    malt lymphoma
    pandas    aspergillosis    bronchiolitis obliterans    bronchiolitis
    acne    sepsis    tuberculosis    pregnancy loss

    1 disease from the University of Copenhagen DISEASES database for TLR1:
    Lyme disease

    TLR1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for TLR1 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lyme disease 44.1 1 16479520 (1)
    necrosis 29.8 3 16048981 (1), 14500472 (1)
    virus infection 22.7 1 11607792 (1)
    bacterial infections 19.6 1 20153434 (1)
    mycobacterial infection 19.3 1 14687934 (1)
    sepsis 17.7 3 18635889 (2), 15794413 (1)
    malt lymphoma 16.6 1 12519297 (1)
    tumors 6.07 3 16048981 (1), 14500472 (1)
    tuberculosis 3.87 3 17595679 (1), 19636364 (1), 16493059 (1)
    asthma 0 1 18547625 (1)

    Genetic Association Database (GAD): TLR1
    Human Genome Epidemiology (HuGE) Navigator: TLR1 (62 documents)

    Export disorders for TLR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TLR1 gene, integrated from 10 sources (see all 276):
    (articles sorted by number of sources associating them with TLR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions. (PubMed id 19456232)1, 2, 4 Schuring R.P.... Oskam L. (J. Infect. Dis. 2009)
    2. A family of human receptors structurally related to Drosophila Toll. (PubMed id 9435236)1, 2, 3 Rock F.L.... Bazan J.F. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)1, 2, 3 Nomura N.... Tabata S. (DNA Res. 1994)
    4. Human TLR1 deficiency is associated with impaired mycobacterial signaling and protection from leprosy reversal reaction. (PubMed id 18461142)1, 4, 9 Misch E.A....Hawn T.R. (PLoS Negl Trop Dis 2008)
    5. Crystal structure of the TLR1-TLR2 heterodimer induced by binding of a tri-acylated lipopeptide. (PubMed id 17889651)1, 2, 9 Jin M.S....Lee J.-O. (Cell 2007)
    6. Toll-like receptor-1, -2, and -6 polymorphisms influence disease extension in inflammatory bowel diseases. (PubMed id 16374251)1, 4, 9 Pierik M....Vermeire S. (Inflamm. Bowel Dis. 2006)
    7. TLR1 and TLR6 polymorphisms are associated with susceptibility to invasive aspergillosis after allogeneic stem cell transplantation. (PubMed id 16461792)1, 4, 9 Kesh S....Papanicolaou G.A. (Ann. N. Y. Acad. Sci. 2005)
    8. Gene polymorphisms of Toll-like and related recognition receptors in relation to the vaginal carriage of Gardnerella vaginalis and Atopobium vaginae. (PubMed id 19200604)1, 4, 9 Verstraelen H....Temmerman M. (J. Reprod. Immunol. 2009)
    9. Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women. (PubMed id 19543401)1, 4, 9 Hawn T.R....Hooton T.M. (PLoS ONE 2009)
    10. Genetic variation in the toll-like receptor gene cluster (TLR10-TLR1-TLR6) and prostate cancer risk. (PubMed id 18752252)1, 4, 9 Stevens V.L....Rodriguez C. (Int. J. Cancer 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7096 HGNC: 11847 AceView: TLR1 Ensembl:ENSG00000174125 euGenes: HUgn7096
    ECgene: TLR1 Kegg: 7096 H-InvDB: TLR1

    (According to HUGE)
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    HUGE: KIAA0012

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TLR1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TLR1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TLR1 gene:
    Search GeneIP for patents involving TLR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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